Canonical Allele Identifier: PA913195349
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 630374
ClinVar RCV Id: RCV000775612 RCV004001454
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp638Asn
CA037403
NM_000527.5:c.1912G>A